Cellosaurus cell line SDQLCHi053-A (CVCL

Cross-references
Cell line name	SDQLCHi053-A
Accession	CVCL_C8DX
Resource Identification Initiative	To cite this cell line use: SDQLCHi053-A (RRID:CVCL_C8DX)
Comments	From: Qilu Children's Hospital of Shandong University; Jinan; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:11497; SYNGAP1; Simple; p.Arg143Ter (c.427C>T); ClinVar=VCV000060716; Zygosity=Heterozygous (PubMed=37385133).
Disease	Mental retardation, autosomal dominant 5 (NCIt: C178414) Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	2Y10M
Category	Induced pluripotent stem cell
Publications	PubMed=37385133; DOI=10.1016/j.scr.2023.103132 Yan-Xin Wang, Xiao-Meng Yang, Hai-Yan Zhang, Ning Liu, Yong Liu, Zhong-Tao Gai, Yi Liu, Yu-Qiang Lv; Generation of a transgene-free iPS cell line (SDQLCHi053-A) from a young girl carrying a heterozygous mutation (c.427C > T) in SYNGAP1 gene. Stem Cell Res. 71:103132-103132(2023)
Cell line databases/resources	hPSCreg; SDQLCHi053-A
Encyclopedic resources	Wikidata; Q123033460
Entry history
Entry creation	29-Jun-2023
Last entry update	19-Dec-2024
Version number	4